Links
Gene Vision is a UK site for genetic eye disorders. It is an on-line fully accessible web resource for both health care professionals and patients, so they could equally benefit from the sharing of knowledge and expertise in genetic eye disease.
The link is for their resource on genetics basics and inheritance patterns.
The link is for Gene Vision’s resource on genetic testing.
Research paper in the journal Nature on, “A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping“.
Eye Want 2 Know is sponsored by Spark Therapeutics, Inc. On this site, the inherited retinal disease community can stay informed about the importance of genetic testing and take action to learn more.
Spark Therapeutics is a commercial company based in the US developing gene therapies to counter genetic diseases.
Videos
Nystagmus and Genetics – 2019
This is a Facebook video, which will require you to sign in and be a member of the ANN FB Group.
Where are the mis-stacked building blocks? To begin to understand this, a basic review of genetics will be presented to provide a solid foundation. Then, we will delve into the genetics of nystagmus, including what we know so far, why it is important, and what testing can be done. Several examples of real-world cases will be provided as illustrations. Finally, we conclude with a brief primer on the process of getting (U.S.) health insurance to cover genetic testing
Genowhat? (Genetics of Nystagmus) ‐ Dr. Jay Self, BM, FRCOphth, PhD
This is a video from the 2021 ANN Conference. Where are the mis-stacked building blocks? A basic review of genetics will be presented to provide a solid foundation. We will then delve into the genetics of nystagmus, including what we know so far, why it is important, and what testing can be done.
